ASHG 2026

Deploying Long-Read Sequencing to Bridge Diagnostic and Equity Gaps in Rare Disease

Emmanuele Delot (UC Irvine)

Evaluating Secondary Findings in Prenatal Exome Sequencing: A Study of Uptake and Yield for ACMG and Childhood Onset Disorder Results

Kayleigh Avello, PhD

The ATM Splice-ome: Charting the multifaceted splicing landscape of ATM

Abstract

Laura Hudish, PhD

MAVE Progress Report, How Ambry Genetics Validates and Deploys High-Throughput Functional Assays

Abstract

Daniel Zimmerman

Optimizing clinical next-generation sequencing workflows through evidence-based expansion of statistical confirmation criteria

Jared Evans

Performance of preliminary SDHB specifications for ACMG/AMP sequence variant classification v3: A pilot assessment

Lauren Desrosiers-Battu (Baylor College of Medicine)

Solving Lynch syndrome missing heritability by integrating long-read DNA sequencing and short- read RNA sequencing

Chris Hatch

Concurrent Long-Read Genome Sequencing with Methylation Pattern Analysis Enhances Diagnostic Yields in the UCI-GREGoR Rare Disease Cohort

Abstract

Seth Berger (Ambry)

Evaluating Combinations of High-Throughput Evidence for Variant Classification in MSH2

Scott Pew (University of Utah)

Concurrent long-read genome sequencing with methylation pattern analysis enhances diagnostic yields in the UCI-GREGoR rare disease cohort

Seth Berger

Piloting the Forthcoming ACMG/AMP/CAP/ClinGen Standards for Sequence Variant Classification

Steven Harrison

A Generalizable Translational Genomics Data Platform built using the GREGoR Consortium

Charles King (UC Irvine)

A Computable Framework for Sequence Variant Classification v4 Criteria Specifications within the ClinGen CSpec Registry

Neethu Shah (Baylor College of Medicine)

Into the Abyss: Mapping the Landscape of Deep Intronic Pathogenicity

Abstract

Kristin Kohler, PhD

Saturation Mapping of MSH2 Splicing Effects to Resolve Variants of Uncertain Significance in Lynch Syndrome

Connor Ward

The genetic landscape of hereditary cancer in Iowa: evidence from a population geospatial analysis

Abstract

Colleen Campbell (University of Iowa)

Project Fast Infant Neurodevelopmental Diagnosis via Outpatient Testing (FIND-OUT): Expanded Pool and Protocol for genome sequencing in symptomatic infants

Katie Schmidt (COMBINEDBrain)

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset

Marsha Wheeler (University of Washington)

Developing a Scalable Data Model Aligned with the Forthcoming Variant Classification Standards

Christine Preston (Stanford University)

Evaluating Combinations of High-Throughput Evidence for Variant Classification in MSH2

Scott Pew (University of Utah)

Guidance from the American College of Medical Genetics and Genomics expected to reduce impact of VUS in genetic testing

Heidi Rehm (Massachusetts General Hospital)